V29L (p.Val29Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
V29L (p.Val29Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- gnomAD 21-45981935-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.15
- MetaLR 0.36
- MetaSVM -0.66
- CADD 1.91
- PolyPhen-2 0.03
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available